KEGG   VARIANT: 5630v1
Entry
5630v1                      Variant                                
Name
PRPH mutation
Type
Loss of function
Gene
PRPH  peripherin [KO:K07607]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 170710
Network
nt06541  Cytoskeleton in neurons
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Reference
PMID:15322088
  Authors
Gros-Louis F, Lariviere R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP
  Title
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.
  Journal
J Biol Chem 279:45951-6 (2004)
DOI:10.1074/jbc.M408139200
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